Gene table of CUBN : cubilin

Gene-disease associations table

Disease IDDisease nameSource of annotation with CUBNOMIM linkNumber of associated genesgenes
261100MEGALOBLASTIC ANEMIA 1ClinVar, OMIM, HUMSAVAR link to OMIM 2CUBN, AMN

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Annotation of the gene CUBN

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Vitamin digestion and absorptionhsa049778.24
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.54
Lipoprotein metabolismR-HSA-1748248.23
Metabolism of vitamins and cofactorsR-HSA-1968546.54
Lipid digestion, mobilization, and transportR-HSA-739237.2
Defects in cobalamin (B12) metabolismR-HSA-32964699.28
Vitamin D (calciferol) metabolismR-HSA-19679110.18
Diseases of metabolismR-HSA-56689146.57
Defective CUBN causes hereditary megaloblastic anemia 1R-HSA-335946311.4
Defective AMN causes hereditary megaloblastic anemia 1R-HSA-335946211.4
MetabolismR-HSA-14307282.34
Metabolism of steroid hormones and vitamin DR-HSA-1960717.89
HDL-mediated lipid transportR-HSA-1942239.08
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Defects in vitamin and cofactor metabolismR-HSA-32964828.52
Cobalamin (Cbl, vitamin B12) transport and metabolismR-HSA-1967418.73
DiseaseR-HSA-16436853.33
Associated GO terms for Molecular function
GO termGO IDGO IC
cobalamin bindingGO:00314197.54
cation bindingGO:00431691.4
metal ion bindingGO:00468721.41
calcium ion bindingGO:00055093.17
tetrapyrrole bindingGO:00469064.8
organic cyclic compound bindingGO:00971591.05
vitamin bindingGO:00198425.34
ion bindingGO:00431671.36
small molecule bindingGO:00360941.89
molecular transducer activityGO:00600892.32
receptor activityGO:00048722.32
protein bindingGO:00055150.46
transporter activityGO:00052152.57
protein dimerization activityGO:00469832.72
protein homodimerization activityGO:00428033.16
heterocyclic compound bindingGO:19013631.06
identical protein bindingGO:00428022.63
bindingGO:00054880.18